Anne Slavotinek, PhD, MBBS
- Director, Division of Human Genetics
- Professor, UC Department of Pediatrics
- anne.slavotinek@cchmc.org
- Board Certified
About
Biography
As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.
My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.
I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.
I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.
When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.
MBBS: University of Adelaide, South Australia, 1987.
PhD: Flinders University, South Australia, 1995.
Registrar and Senior Registrar: Churchill Hospital, Oxford, United Kingdom and St. Mary's Hospital, Manchester, United Kingdom.
Residency: National Human Genome Research Institute, National Institutes of Health.
Interests
Medical genetics; dysmorphology
Interests
Developmental eye defects; genomics; multiple congenital anomaly syndromes
Research Areas
Human Genetics
Insurance Information
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Publications
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population. npj Genomic Medicine. 2024; 9:1.
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Research. 2024; 116:e2413.
AXIN1 mutations in nonsyndromic craniosynostosis. Journal of Neurosurgery: Pediatrics. 2024; 34:246-251.
Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium. Genetics in Medicine. 2024; 26:101176.
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease. Human Genetics and Genomics Advances. 2024; 5:100286.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American Journal of Medical Genetics, Part A. 2024; 194:e63559.
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review. American Journal of Medical Genetics, Part A. 2024; 194:e63567.
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Genetics in Medicine. 2024; 26:101118.
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications. Journal of the American Medical Association (JAMA). 2024; 331:1276-1278.
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Human Genetics and Genomics Advances. 2024; 5:100282.
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